Rhizomelic chondrodysplasia punctata type 1 (RCDP1; MIM 215100) is an autosomal recessive peroxisomal disorder characterized by disproportionate short stature with rhizomelic limb shortening, congenital cataracts, distinct facial features, severe intellectual disability, and seizures.  Radiographs of infants with RCDP1 show punctate calcifications in the epiphyseal cartilage and coronal clefts of the vertebral bodies.read more

Tests Available

By gene: PEX7
Sanger Sequencing
Test Code: 1997
Deletion / Duplication
Test Code: 1998
NGS/Del Dup Comprehensive
Test Code: 1999

Test Details

Technical Information
Disease Groups: 
Metabolic and Endocrine Disorders
Neurological and Muscular Disorders
Skeletal Dysplasias
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 1 to 2 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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